Brachydactyly, and Toe syndactyly

Diseases related with Brachydactyly and Toe syndactyly

In the following list you will find some of the most common rare diseases related to Brachydactyly and Toe syndactyly that can help you solving undiagnosed cases.


Top matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match SYNDACTYLY TYPE 5


Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Abnormality of the foot


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 5

Low match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

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Other less relevant matches:

Low match BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE


Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly
  • Toe syndactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE

Low match BRACHYDACTYLY TYPE A2


Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

BRACHYDACTYLY TYPE A2 Is also known as brachydactyly, mohr-wriedt type|brachymesophalangy ii|mohr-wriedt type brachydactyly

Related symptoms:

  • Short stature
  • Brachydactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Short foot


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BRACHYDACTYLY TYPE A2

Low match SYNPOLYDACTYLY TYPE 1


Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of SynpolydactylySee also SPD2 (OMIM ), caused by mutation in the fibulin-1 gene (FBLN1 ) on chromosome 22q13, and SPD3 (OMIM ), which has been mapped to chromosome 14q11.2-q12.

SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii|synpolydactyly, vordingborg type|spd, vordingborg type|sd2a|sdty2|spd1|sd2, vordingborg type

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Polydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 1

Low match BRACHYDACTYLY TYPE B2


Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Syndactyly
  • Finger syndactyly
  • Hypermetropia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY TYPE B2

Low match JEUNE SYNDROME


Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn|jatd|jeune asphyxiating thoracic dystrophy

Related symptoms:

  • Short stature
  • Brachydactyly
  • Respiratory insufficiency
  • Renal insufficiency
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about JEUNE SYNDROME

Low match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Low match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Toe syndactyly

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Short foot Uncommon - Between 30% and 50% cases
Short distal phalanx of finger Uncommon - Between 30% and 50% cases
Short middle phalanx of the 5th finger Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Toe syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


4-5 toe syndactyly Finger syndactyly Clinodactyly of the 5th finger Hallux valgus Short stature Polydactyly Clinodactyly

Rare Symptoms - Less than 30% cases


Short 1st metacarpal Postaxial foot polydactyly Midface retrusion Abnormality of digit Anonychia Camptodactyly Sensorineural hearing impairment Cutaneous syndactyly Short phalanx of finger Broad hallux Short middle phalanx of finger Cryptorchidism Symphalangism affecting the phalanges of the hand Aplasia/Hypoplasia of the middle phalanges of the toes Cutaneous syndactyly of toes Abnormality of the hand Abnormality of the foot 3-4 finger syndactyly 2-3 toe syndactyly Cutaneous finger syndactyly Carpal synostosis Metacarpal synostosis Abnormality of retinal pigmentation Abnormality of pelvic girdle bone morphology Cone-shaped epiphysis Short thorax Nephronophthisis Aplasia/Hypoplasia of the lungs Abnormality of the sternum Abnormality of the ribs Abnormality of the clavicle Seizures Hearing impairment Abnormal facial shape High forehead Pes planus Abnormality of the metaphysis Micromelia Postaxial hand polydactyly Short distal phalanx of toe Proximal symphalangism Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Proximal symphalangism of hands Distal symphalangism Type B brachydactyly Absent phalangeal crease Nephropathy Respiratory insufficiency Renal insufficiency Skeletal dysplasia Feeding difficulties in infancy Abnormality of the liver Narrow chest Nail dystrophy Deeply set eye Ectodermal dysplasia Dolichocephaly Intellectual disability, severe Selective tooth agenesis Anhidrotic ectodermal dysplasia Absent toenail Hidrotic ectodermal dysplasia Bilateral triphalangeal thumbs Microcephaly Retrognathia High-frequency hearing impairment Aggressive behavior Single transverse palmar crease Prominent nose Sloping forehead Thoracic scoliosis Congenital microcephaly Single interphalangeal crease of fifth finger Hypoplasia of teeth Conical tooth Joint hypermobility Gingival overgrowth Distal symphalangism of hands Nail dysplasia Hypotelorism Bilateral sensorineural hearing impairment Small nail Hypertrichosis Oligodontia Severe sensorineural hearing impairment Reduced number of teeth Triphalangeal thumb Congenital sensorineural hearing impairment Blindness Agenesis of permanent teeth Cognitive impairment Aplasia cutis congenita Aplasia/Hypoplasia of the distal phalanges of the toes Synostosis of carpal bones Aplasia/Hypoplasia of the middle phalanges of the hand Camptodactyly of finger Aplasia/Hypoplasia of the ulna Aplasia/Hypoplasia of the fibula Postaxial oligodactyly Unilateral ulnar hypoplasia Joint contracture of the hand Interphalangeal joint contracture of finger External genital hypoplasia Short 5th finger Anosmia Oligodactyly Renal cyst Short 5th metacarpal Retinal dystrophy Retinal degeneration Lower limb asymmetry Fibular hypoplasia Short middle phalanx of the 2nd finger Growth delay Absent distal interphalangeal creases 3-4 toe syndactyly Metatarsal synostosis Fused fourth and fifth metacarpals Enlarged proximal interphalangeal joints Deviation of toes Frontal bossing Bilateral talipes equinovarus Talipes equinovarus Atrial septal defect Malar flattening Ulnar deviation of finger Prominent forehead Round face Hemangioma Short proximal phalanx of finger Short fifth metatarsal Absent fingernail Y-shaped metacarpals Obesity Preaxial foot polydactyly Aplasia of the middle phalanx of the hand Hallux varus Mesoaxial hand polydactyly Contracture of the proximal interphalangeal joint of the 5th finger 6 metacarpals Finger clinodactyly 2nd-5th toe middle phalangeal hypoplasia Abnormality of the dentition Hypermetropia Short toe Proximal placement of thumb Tarsal synostosis Rod-cone dystrophy Postaxial polydactyly Nyctalopia Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Short hallux Reduced visual acuity Short 2nd finger Ulnar deviation of the 2nd finger Radial deviation of the 2nd finger Hypogonadism Aplasia/Hypoplasia of the middle phalanx of the 5th finger Short palm Short 2nd metacarpal Triangular shaped middle phalanx of the 2nd finger Type A2 brachydactyly Medially deviated second toe Triangular shaped middle phalanx of the 5th finger Bracket epiphysis of the middle phalanx of the 2nd finger Bracket epiphysis of the middle phalanx of the 5th finger Absent fourth finger distal interphalangeal crease



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